ClinVar Miner

List of variants in gene FKRP reported as benign

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.-34C>T rs3201779 0.17414
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_024301.5(FKRP):c.-190-93C>T rs28451715 0.07320
NM_024301.5(FKRP):c.-40+8C>G rs36215245 0.04687
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212 0.00213
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568 0.00179
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192 0.00066
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812 0.00060
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880 0.00022
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00008
NM_024301.5(FKRP):c.-39-205del rs5828285
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln) rs587780334

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